Literature DB >> 23378547

Status epilepticus in a child with Sanjad Sakati syndrome.

Rajniti Prasad1, Chhaya Kumari, Om Prakash Mishra, Utpal Kant Singh.   

Abstract

We report a 6-year-old boy who presented with status epilepticus, who had facial dysmorphism, growth and mental retardation. On investigation, he had hypocalcaemia, hypoparathyroidism and bilateral calcification of basal ganglia in cranial tomographs; features consistent with Sanjad Sakati syndrome. He was treated with intravenous calcium gluconate initially followed by oral calcium and calcitriol and recovered completely.

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Year:  2013        PMID： 23378547      PMCID： PMC3603786          DOI： 10.1136/bcr-2012-007794

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  6 in total

1.  Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43.

Authors:  T E Kelly; S Blanton; R Saif; S A Sanjad; N A Sakati
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

2.  Primary hyperparathyroidism in pediatric patients.

Authors:  Josh Kollars; Abdalla E Zarroug; Jon van Heerden; Aida Lteif; Penny Stavlo; Luis Suarez; Christopher Moir; Michael Ishitani; David Rodeberg
Journal:  Pediatrics       Date:  2005-04       Impact factor: 7.124

3.  Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

Authors:  Ruti Parvari; Eli Hershkovitz; Nili Grossman; Rafael Gorodischer; Bart Loeys; Alexandra Zecic; Geert Mortier; Simon Gregory; Reuven Sharony; Marios Kambouris; Nadia Sakati; Brian F Meyer; Aida I Al Aqeel; Abdul Karim Al Humaidan; Fatma Al Zanhrani; Abdulrahman Al Swaid; Johara Al Othman; George A Diaz; Rory Weiner; K Tahseen S Khan; Ronald Gordon; Bruce D Gelb
Journal:  Nat Genet       Date:  2002-10-21       Impact factor: 38.330

4.  A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

Authors:  S A Sanjad; N A Sakati; Y K Abu-Osba; R Kaddoura; R D Milner
Journal:  Arch Dis Child       Date:  1991-02       Impact factor: 3.791

Review 5.  The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

Authors:  E Hershkovitz; S Shalitin; J Levy; E Leiberman; A Weinshtock; I Varsano; R Gorodischer
Journal:  Isr J Med Sci       Date:  1995-05

6.  Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait.

Authors:  K K Naguib; S A Gouda; A Elshafey; F Mohammed; L Bastaki; A S Azab; S A Alawadi
Journal:  East Mediterr Health J       Date:  2009 Mar-Apr       Impact factor: 1.628
  6 in total
  2 in total

1.  Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.

Authors:  Antonietta Coppola; Deborah Morrogh; Fiona Farrell; Simona Balestrini; Laura Hernandez-Hernandez; S Krithika; Josemir W Sander; Jonathan J Waters; Sanjay M Sisodiya
Journal:  Mol Syndromol       Date:  2017-09-15

Review 2.  Oral Facial Manifestations of Sanjad-Sakati Syndrome: A Literature Review.

Authors:  Sara Alghamdi
Journal:  Children (Basel)       Date:  2022-03-22
  2 in total

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